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autosomaal recessieve cerebellaire ataxie met laat optredende spasticiteit (aandoening)
autosomaal recessieve cerebellaire ataxie met laat optredende spasticiteit
autosomaal recessieve cerebellaire ataxie door GBA2-deficiƫntie
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency
A rare genetic neurodegenerative disease with childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis and abnormalities of the brain (e.g. cerebral atrophy) may also be associated.
Id763348005
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG11.8
RuleTRUE
AdviceALWAYS G11.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified